Credits

Although great care has been taken in the compilation and
preparation of all entries to ensure accuracy, we cannot accept
responsibility for any errors or omissions. Any medical information
is provided is for education/information purposes and is not
designed to replace medical advice by a qualified medical
professional.

What are the symptoms?

Cone Rod Dystrophy- this is often the first symptom noticed
within the first few months of life. Parents may notice that their
child's eyes are 'wobbling' and this is later confirmed by an
ophthalmologist (eye specialist) to be nystagmus. Young people also develop
photophobia and become extremely sensitive to light. The majority
of young people are registered severely sight impaired by the age
of five although they may retain some useful vision for some
time.

Sensorineural Hearing Loss- usually detected before the age of
10 and many young children will also suffer from glue ear and a
constant runny nose.

Obesity-children can put on weight rapidly despite the fact that
they may eat similar portions of food to their peers. This may
relate to reduced exercise ability with sensory deficits, and
increased hunger.

Type 2
Diabetes- diabetes is common amongst the majority of people
with Alström Syndrome from teenage onwards, and regular blood tests
are carried out to detect early signs.

Dilated Cardiomyopathy- around 40%
of young people may develop heart failure within the first few
months of life and this is often initially thought to be the result
of some kind of virus. They often tend to recover, although not
completely and there is a possibility that this can re-occur in
future. All people with Alström Syndrome are at risk of developing
cardiomyopathy at some point in their lives.

Other symptoms may include liver and kidney disease, scoliosis,
urological (urinary system) and respiratory problems.

It is important to note that not everyone diagnosed will
experience all of these symptoms. Alström Syndrome should be
considered if a person presents with two or more of these
symptoms.

What are the causes?

Alström syndrome is caused by mutations of the ALMS1 gene
located on chromosome 2. The gene normally codes for a protein
linked with a tiny hair, called a cilium, on all of our cells which
also links with tubules within cells carrying receptors to the
surface of the cell.

How is it diagnosed?

Observation of the characteristic symptoms may indicate Alström
syndrome. Genetic testing can confirm the presence of a defect in
the ALMS1 gene. The complex symptoms found in Alström Syndrome
overlap but are distinct from those of other genetic disorders
affecting cilia, and other causes of infant blindness.

How is it treated?

Specialised multi-disciplinary clinics, funded by NHS England,
are available in Birmingham to all patients throughout the UK and
they provide the opportunity to be reviewed by a variety of
different specialists to screen for known complications; and a
number of tests are carried out.

Unfortunately there is no cure for Alström Syndrome but it is
felt that these screening clinics, combined with a healthy balanced
diet and regular exercise can improve the health outcomes for
people diagnosed.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
Alström syndrome is inherited in an autosomal recessive manner,
meaning that both parents must carry one copy of the ALMS1 gene
with a significant mutation to have an affected child. Genetic
testing may be possible by amniocentesis or chorionic villus
sampling if the gene defect in a family is known. Genetic
counselling should be sought for families affected by the
condition.

Prenatal diagnosis

Prenatal testing and pre-implantation genetic diagnosis may also
be available.